PANK2 gene related symptoms and diseases
All the information presented here about the PANK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PANK2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Blindness | Very Common - Between 80% and 100% cases |
| Dysphagia | Very Common - Between 80% and 100% cases |
| Spasticity | Very Common - Between 80% and 100% cases |
| Dysarthria | Very Common - Between 80% and 100% cases |
| Pigmentary retinopathy | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PANK2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Rod-cone dystrophy
- Gait disturbance
- Retinopathy
- Hyperreflexia
- Eye of the tiger anomaly of globus pallidus
- Cognitive impairment
- Frequent falls
Not very common - Between 30% and 50% cases
- Nyctalopia
And 110 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PANK2 gene
Here you will find a list of rare diseases related to the PANK2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
Alternate names
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 Is also known as hallervorden-spatz disease, pkan, pkan neuroaxonal dystrophy, juvenile-onset, pantothenate kinase-associated neurodegeneration
Description
Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009).Panthothenate kinase-associated neurodegeneration has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI (Hayflick et al., 2003; Pellecchia et al., 2005).Kumar et al. (2006) noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.Gregory et al. (2009) provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.In addition, some patients with Kufor-Rakeb syndrome (OMIM ), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia.
Most common symptoms of NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
- Intellectual disability
- Seizures
- Global developmental delay
- Ataxia
- Failure to thrive
More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION
Alternate names
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION Is also known as harp syndrome
Most common symptoms of HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION
- Spasticity
- Dysarthria
- Dysphagia
- Blindness
- Dystonia
More info about HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION
CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION
Alternate names
CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, classic form, nbia1, classic form, pkan, classic form
Most common symptoms of CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION
- Seizures
- Global developmental delay
- Spasticity
- Cognitive impairment
- Hyperreflexia
More info about CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION
SOURCES: ORPHANET
ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION
Alternate names
ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, atypical form, pkan, atypical form, nbia1, atypical form
Most common symptoms of ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION
- Spasticity
- Cognitive impairment
- Hyperreflexia
- Dysarthria
- Optic atrophy
More info about ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION
SOURCES: ORPHANET
Search interest in PANK2
Potential gene panels for PANK2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A
More info about this panel United States.
Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the PANK2 gene.
More info about this panel United States.
Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Sequencing and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the PANK2 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panel United States.
Dystonia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Movement Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panel United States.
PANK2 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the PANK2 gene.
More info about this panel United States.
PANK2 deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the PANK2 gene.
More info about this panel United States.
NBIA Deletion/Duplication Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago NBIA Deletion/Duplication Analysis that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel United States.
NBIA Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago NBIA Sequencing Panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Neurodegeneration with brain iron accumulation type 1 Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the PANK2 gene.
More info about this panel Switzerland.
PANK2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PANK2 gene.
More info about this panel Spain.
PANK2. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PANK2 gene.
More info about this panel Spain.
Neurodegeneration with brain iron accumulation 1 (NBIA1, sequence analysis of PANK2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PANK2 gene.
More info about this panel Portugal.
Dystonia (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panel Portugal.
Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) Panel
Portugal.
By CGC Genetics Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) that also includes the following genes: PANK2 FA2H C19orf12 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Portugal.
Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) Panel
Portugal.
By CGC Genetics Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) that also includes the following genes: PANK2 FA2H C19orf12 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Portugal.
Pantothenate Kinase-Associated Neurodegeneration Panel
United Kingdom.
By Mersey Regional Genetics Laboratories Liverpool Women's Hospital
This panel specifically test the PANK2 gene.
More info about this panel United Kingdom.
Hallorverden - Spatz disease Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the PANK2 gene.
More info about this panel India.
Pantothenate Kinase-Associated Neurodegeneration Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the PANK2 gene.
More info about this panel Belgium.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Pantothenate Kinase-Associated Neurodegeneration (PKAN, Hallervorden-Spatz Disease) via PANK2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PANK2 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: PANK2 NALCN FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Epileptic Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel Germany.
Epilepsy and Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Mitochondrial Diseases Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Germany.
By MGZ Medical Genetics Center Neurodegeneration with Brain Iron Accumulation (NBIA) that also includes the following genes: ATL1 SPAST PANK2 FA2H CP C19orf12 DCAF17 IBA57 WDR45 ATP13A2
More info about this panel Germany.
Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Pantothenate Kinase-Associated Neurodegeneration Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the PANK2 gene.
More info about this panel Germany.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Pantothenate kinase-associated neurodegeneration Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PANK2 gene.
More info about this panel Germany.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel Panel
Germany.
By CeGaT GmbH Neurodegeneration with Brain Iron Accumulation (NBIA) Panel that also includes the following genes: SCP2 REPS1 PANK2 FA2H CP C19orf12 DCAF17 SLC25A42 WDR45 COASY
More info about this panel Germany.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
Hereditary Degenerative Syndromes Panel Panel
Germany.
By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A
More info about this panel Germany.
Parkinson all Panel Panel
Germany.
By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Neuroacanthocytosis Panel Panel
Germany.
By CeGaT GmbH Neuroacanthocytosis Panel that also includes the following genes: XK JPH3 PANK2 VPS13A
More info about this panel Germany.
Basal ganglia calcification Panel Panel
Germany.
By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2
More info about this panel Germany.
Dystonia All Panel Panel
Germany.
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel Germany.
Single gene testing PANK2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PANK2 gene.
More info about this panel Germany.
Pantothenate Kinase-Associated Neurodegeneration (PKAN, NBIA1, PANK2) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the PANK2 gene.
More info about this panel Germany.
Dystonia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panel
Estonia.
Neurodegeneration with Brain Iron Accumulation Panel
Estonia.
By Asper Biogene Asper Biogene LLC Neurodegeneration with Brain Iron Accumulation that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Estonia.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Spain.
Pantothenate kinase-associated neurodegeneration, PANK2 gene, sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the PANK2 gene.
More info about this panel United States.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Hallervorden-Spatz Syndrom Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PANK2 gene.
More info about this panel Austria.
HARP syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PANK2 gene.
More info about this panel Austria.
Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Sequencing and Deletion/Duplication Panel
United States.
By NBIA Testing Center Oregon Health & Science University
This panel specifically test the PANK2 gene.
More info about this panel United States.
Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Deletion/Duplication Panel
United States.
By NBIA Testing Center Oregon Health & Science University
This panel specifically test the PANK2 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel
United States.
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP
More info about this panel United States.
Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Sequencing Panel
United States.
By NBIA Testing Center Oregon Health & Science University
This panel specifically test the PANK2 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel
United States.
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel
United States.
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 VPS13A SLC39A14 FA2H CP C19orf12 DCAF17 WDR45
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Hallervorden-Spatz Syndrom Panel
Slovakia.
By MedGene
This panel specifically test the PANK2 gene.
More info about this panel Slovakia.
HARP syndrome Panel
Slovakia.
By MedGene
This panel specifically test the PANK2 gene.
More info about this panel Slovakia.
Invitae Neurodegeneration with Brain Iron Accumulation Panel Panel
United States.
By Invitae Invitae Neurodegeneration with Brain Iron Accumulation Panel that also includes the following genes: SQSTM1 PANK2 CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL FUCA1
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
PANK2: PANK2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PANK2 gene.
More info about this panel Spain.
PANK2: PANK2 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PANK2 gene.
More info about this panel Spain.
DYSTONIA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTONIA that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
Neurodegeneration with Brain Iron Accumulation Disorders Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Neurodegeneration with Brain Iron Accumulation Disorders that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panel Spain.
NGS panel - Neurodegeneration with brain iron accumulation Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Neurodegeneration with brain iron accumulation that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Netherlands.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Dystonia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Eye Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
PANK2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PANK2 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Pantothenate-kinase-associated neurodegeneration Panel
Spain.
By Bioarray
This panel specifically test the PANK2 gene.
More info about this panel Spain.
Pantothenate-kinase-associated neurodegeneration Panel
Spain.
By Bioarray
This panel specifically test the PANK2 gene.
More info about this panel Spain.
PANK2 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PANK2 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Neurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (PANK2) Targeted Testing Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PANK2 gene.
More info about this panel United States.
PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION (HALLERVORDEN-SPATZ DISEASE) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PANK2 gene.
More info about this panel Spain.
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Spain.
DYSTONIAS (DYT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A
More info about this panel Spain.
HARP SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PANK2 gene.
More info about this panel Spain.
Neurodegeneration Associated to Pantothenate Kinase , Sequencing PANK2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PANK2 gene.
More info about this panel Spain.
Neurodegeneration Associated to Pantothenate Kinase , Deletions-Duplications (MLPA) PANK2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PANK2 gene.
More info about this panel Spain.
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Spain.
Neurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Neurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panel Spain.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
Pantothenate Kinase-Associated Neurodegeneration: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PANK2 gene.
More info about this panel Canada.
Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panel Canada.
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